Canonical Allele Identifier: CA1599940

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2724953
• ClinVar RCV Id: RCV003501519
• dbSNP Id: rs540377336
• ExAC: 2:31758662 G / A
• gnomAD v2: 2-31758662-G-A
• gnomAD v3: 2-31533592-G-A
• gnomAD v4: 2-31533592-G-A
• MyVariant Identifiers: chr2:g.31758662G>A (hg19) ; chr2:g.31533592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533592G>A , CM000664.2:g.31533592G>A	GRCh38
NC_000002.11:g.31758662G>A , CM000664.1:g.31758662G>A	GRCh37
NC_000002.10:g.31612166G>A	NCBI36
NG_008365.1:g.52380C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.445+11C>T MANE Select	ENSP00000477587.1:n.445+11C>T
ENST00000622030.1:c.445+11C>T	ENSP00000477587.1:n.445+11C>T
NM_000348.3:c.445+11C>T	NP_000339.2:n.445+11C>T
XM_011533068.1:c.445+11C>T	XP_011531370.1:n.445+11C>T
XM_011533069.1:c.223+11C>T	XP_011531371.1:n.223+11C>T
XM_011533070.1:c.190+11C>T	XP_011531372.1:n.190+11C>T
XM_011533071.1:c.190+11C>T	XP_011531373.1:n.190+11C>T
XM_011533072.1:c.190+11C>T	XP_011531374.1:n.190+11C>T
XM_011533069.2:c.223+11C>T	XP_011531371.1:n.223+11C>T
XM_011533072.2:c.190+11C>T	XP_011531374.1:n.190+11C>T
NM_000348.4:c.445+11C>T MANE Select	NP_000339.2:n.445+11C>T